KIT D816G
Gene Variant Detail

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Gene KIT
Variant D816G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT D816G lies within the protein kinase domain of the Kit protein (UniProt.org). D816G results in constitutive phosphorylation of Kit and is transforming in culture (PMID: 27068398), and confers resistance to KIT inhibitors in culture (PMID: 25239608).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT act mut KIT D816G

KIT mutant KIT exon17 KIT D816X KIT D816G

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Transcript NM_000222.3
gDNA chr4:g.54733155A>G
cDNA c.2447A>G
Protein p.D816G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008179 chr4:g.54733167A>G c.2447A>G p.D816G RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733155A>G c.2447A>G p.D816G RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733155A>G c.2447A>G p.D816G RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733155A>G c.2447A>G p.D816G RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54733167A>G c.2447A>G p.D816G RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733155A>G c.2447A>G p.D816G RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54733167A>G c.2447A>G p.D816G RefSeq GRCh38/hg38
NM_001093772 chr4:g.54733167A>G c.2447A>G p.D816G RefSeq GRCh38/hg38
NM_000222 chr4:g.54733155A>G c.2447A>G p.D816G RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733155A>G c.2447A>G p.D816G RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54733167A>G c.2447A>G p.D816G RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54733167A>G c.2447A>G p.D816G RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries